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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GINS1, LOC130065587
(E18fs)
Indel
(frameshift variant +1 more)
Combined immunodeficiency due to GINS1 deficiency
GUncertain significance
GINS1
(R86W)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to GINS1 deficiency
GUncertain significance